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Case Reports
. 2020 Aug 24:2020:2071738.
doi: 10.1155/2020/2071738. eCollection 2020.

A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery-Dreifuss Muscular Dystrophy

Xiafei Dai  1   2 , Rong Luo  3 , Yang Chen  1   2 , Chenqing Zheng  4 , Yibin Tang  2 , Hongmei Zhang  2 , Ye Su  1   2 , Tao He  1   2 , Xiaoping Li  1   2
Affiliations
Case Reports

A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery-Dreifuss Muscular Dystrophy

Xiafei Dai et al. Case Rep Genet. .

Abstract

This case reports a novel hemizygous frameshift EMD mutation (c.487delA, p.Ser163fs) in twins of an Emery-Dreifuss muscular dystrophy family with severe cardiac involvement and mild muscle weakness. Their mother carried the same heterozygous mutation.

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Conflict of interest statement

The authors declare that they have no conflicts of interest.

Figures

Figure 1
Figure 1
Pedigree structure. Square: male; circle: female; black square: affected; white circle/square: unaffected; white circle/square with a black dot: carrier. The arrow indicates the proband. ∗Sequenced family members.
Figure 2
Figure 2
ECGs of the pedigree (II-2, III-1, III-2, and III-3). (a) III-1 was normal. (b) II-2 was normal. (c) III-3 showed second-degree atrioventricular block and bradycardia. (d) An ECG of III-2 showed atrial flutter and third-degree atrioventricular block before the operation. (e) An ECG of III-2 showed a junctional escape rhythm, third-degree atrioventricular block.
Figure 3
Figure 3
Echocardiography of the proband. (a) Right atrium (59 × 57 mm). (b) Right ventricle (50 mm). (c) Left atrium (54 × 44 mm).
Figure 4
Figure 4
Sanger sequencing DNA chromatogram of the pedigree (II-2, III-1, III-2, and III-3). (a) III-1 was normal. (b) II-2 presented with a heterozygous frameshift mutation (c.487delA, p.Ser163fs). (c) III-2 and III-3 showed a hemizygous frameshift mutation (c.487delA, p.Ser163fs).
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References

    1. Madej-Pilarczyk A. Clinical aspects of Emery-Dreifuss muscular dystrophy. Nucleus. 2018;9(1):268–274. doi: 10.1080/19491034.2018.1462635. - DOI - PMC - PubMed
    1. Small K., Warren S. T. Emerin deletions occurring on both Xq28 inversion backgrounds. Human Molecular Genetics. 1998;7(1):135–139. doi: 10.1093/hmg/7.1.135. - DOI - PubMed
    1. Norwood F. L. M., Harling C., Chinnery P. F., Eagle M., Bushby K., Straub V. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain. 2009;132(11):3175–3186. doi: 10.1093/brain/awp236. - DOI - PMC - PubMed
    1. Emery A. E., Dreifuss F. E. Unusual type of benign X-linked muscular dystrophy. Journal of Neurology, Neurosurgery & Psychiatry. 1966;29(4):338–342. doi: 10.1136/jnnp.29.4.338. - DOI - PMC - PubMed
    1. Takamoto K., Hirose K., Uono M. A genetic variant of Emery-Dreifuss disease. Archives of Neurology. 1984;41(12):1292–1293. doi: 10.1001/archneur.1984.04050230078024. - DOI - PubMed

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